Case Report
Volume: 1 | Issue: 2 | Published: May 23, 2018 | Pages: 81 - 83 | DOI: 10.24911/JBCGenetics/183-1541166651
A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene
Authors: Muhsin Elmas , Basak Gogus
Article Info
Authors
Muhsin Elmas
Afyon Sağlık Bilimleri University. Medical Facutly, Medical Genetic
Basak Gogus
Afyon Sağlık Bilimleri University. Medical Facutly, Medical Genetic
Publication History
Received: November 02, 2018
Accepted: January 08, 2019
Published: May 23, 2018
Abstract
Background: Mutations in the collagen VI genes (COL6A1, COL6A2, and COL6A3) cause Ullrich congenital muscular dystrophy (UCMD) (UCMD; Mendelian Inheritance in Man [MIM] 254090), Bethlem myopathy (BM) (BM; MIM 158810) and phenotypes between BM and UCMD. Both of UCMD and BM are inherited as autosomal dominant and autosomal recessive. Case Presentation: A 4-year-old patient presented to the clinical genetic department with complaints of mental motor retardation, epilepsy and joint contractures. The patient's physical examination, biochemical test results, magnetic resonance image, echocardiography were lead us suspected from congenital muscular dystrophy. Then WES analysis was performed. As a result of WES analysis, homozygous mutation was detected in COL6A2 gene. Conclusion: WES analysis is a good method for diseases with recessive inheritance. In addition, detailed and holistic assessment of patients is important.
Keywords: Myopathies, Drug resistant epilepsy, Microcephaly
